Variant report

Variant	rs540862442
Chromosome Location	chr11:67034687-67034688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
2	ZBTB7A	chr11:67034141-67035014	ECC-1	luminal epithelium:	n/a	chr11:67034630-67034638 chr11:67034642-67034649
3	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
4	POLR2A	chr11:67033491-67035804	K562	blood:	n/a	n/a
5	SIN3A	chr11:67034177-67034875	H1-hESC	embryonic stem cell:	n/a	chr11:67034553-67034564
6	MYC	chr11:67034679-67034781	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
8	MAX	chr11:67034446-67035378	K562	blood:	n/a	n/a
9	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67034677-67035547	HepG2	liver:	n/a	n/a
11	MXI1	chr11:67034071-67035185	SK-N-SH	brain:	n/a	n/a
12	YY1	chr11:67033570-67035049	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
13	POU2F2	chr11:67034644-67035154	GM12878	blood:	n/a	n/a
14	MTA3	chr11:67034476-67036629	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:67034606-67035118	MCF-7	breast:	n/a	n/a
16	ELF1	chr11:67034536-67036181	GM12878	blood:	n/a	n/a
17	STAT5A	chr11:67034406-67037282	GM12878	blood:	n/a	chr11:67035955-67035963
18	HCFC1	chr11:67033056-67034902	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:67034482-67038045	GM12892	blood:	n/a	n/a
20	YY1	chr11:67033582-67035268	GM12892	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
21	ZEB1	chr11:67034375-67035628	HepG2	liver:	n/a	chr11:67035268-67035277
22	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
23	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
24	MAX	chr11:67033574-67035690	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:67033810-67036220	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67033639-67036135	Raji	blood:	n/a	n/a
27	YY1	chr11:67033890-67034752	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
28	PML	chr11:67034506-67036835	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67033628-67036181	GM12878	blood:	n/a	n/a
30	RUNX3	chr11:67034575-67036694	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67033515-67041155	GM12892	blood:	n/a	n/a
32	UBTF	chr11:67033672-67034722	K562	blood:	n/a	n/a
33	POLR2A	chr11:67034580-67038739	GM12878	blood:	n/a	n/a
34	ZBTB7A	chr11:67034431-67035049	ECC-1	luminal epithelium:	n/a	chr11:67034630-67034638 chr11:67034642-67034649
35	POLR2A	chr11:67033623-67035815	K562	blood:	n/a	n/a
36	YY1	chr11:67034677-67035497	GM12878	blood:	n/a	n/a
37	ELF1	chr11:67034635-67034972	K562	blood:	n/a	n/a
38	CTCF	chr11:67034580-67034730	Caco-2	colon:	n/a	n/a
39	UBTF	chr11:67033590-67035164	K562	blood:	n/a	n/a
40	CTCF	chr11:67034680-67034830	GM12874	blood:	n/a	n/a
41	TEAD4	chr11:67034615-67035457	K562	blood:	n/a	n/a
42	POU2F2	chr11:67034640-67035217	GM12891	blood:	n/a	n/a
43	YY1	chr11:67033554-67035035	SK-N-SH	brain:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
44	RELA	chr11:67034664-67036463	GM12891	blood:	n/a	n/a
45	CCNT2	chr11:67033639-67034763	K562	blood:	n/a	chr11:67034686-67034695
46	ZBTB7A	chr11:67034095-67035030	K562	blood:	n/a	chr11:67034630-67034638 chr11:67034642-67034649
47	CTCF	chr11:67034600-67034750	HRE	kidney:	n/a	n/a
48	YY1	chr11:67033478-67035336	HepG2	liver:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962

No.	Distal block	Cell Line	Cell type
1	chr11:67034337..67035118-chr11:67055575..67056376,2	NB4	blood:
2	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
5	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:
6	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
7	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
8	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
9	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
12	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
12	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67033400-67035000	Active TSS	Fetal Kidney	kidney
2	chr11:67033400-67035000	Active TSS	A549	lung
3	chr11:67033400-67035400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:67033600-67034800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:67033600-67034800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:67033600-67034800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:67033600-67034800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:67033600-67034800	Active TSS	Brain Anterior Caudate	brain
10	chr11:67033600-67034800	Active TSS	Brain Substantia Nigra	brain
11	chr11:67033600-67034800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:67033600-67034800	Active TSS	Left Ventricle	heart
13	chr11:67033600-67035000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:67033600-67035000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:67033600-67035000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:67033600-67035000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:67033600-67035000	Active TSS	Aorta	Aorta
18	chr11:67033600-67035000	Active TSS	Colon Smooth Muscle	Colon
19	chr11:67033600-67035000	Active TSS	Fetal Lung	lung
20	chr11:67033600-67035000	Active TSS	Ovary	ovary
21	chr11:67033600-67035000	Active TSS	HSMM	muscle
22	chr11:67033600-67035000	Active TSS	NHDF-Ad	bronchial
23	chr11:67033600-67035200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:67033600-67035200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:67033600-67035200	Active TSS	HSMMtube	muscle
26	chr11:67033600-67035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:67033600-67035600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:67033600-67035600	Active TSS	Primary T cells from cord blood	blood
29	chr11:67033600-67035800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:67033800-67034800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:67033800-67034800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:67033800-67034800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:67033800-67034800	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr11:67033800-67034800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:67033800-67034800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:67033800-67034800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:67033800-67034800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:67033800-67034800	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:67033800-67034800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:67033800-67034800	Active TSS	Fetal Intestine Small	intestine
41	chr11:67033800-67034800	Active TSS	Rectal Smooth Muscle	rectum
42	chr11:67033800-67034800	Active TSS	Right Ventricle	heart
43	chr11:67033800-67034800	Active TSS	HMEC	breast
44	chr11:67033800-67034800	Active TSS	HUVEC	blood vessel
45	chr11:67033800-67034800	Active TSS	K562	blood
46	chr11:67033800-67034800	Active TSS	NH-A	brain
47	chr11:67033800-67034800	Active TSS	NHEK	skin
48	chr11:67033800-67034800	Active TSS	Osteobl	bone
49	chr11:67033800-67035000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:67033800-67035000	Active TSS	Primary T cells fromperipheralblood	blood

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